homozygus IVS 1-6 T-->C

hi
im a father of a boy 3.5 years recently diagnosed as thal. inter.
his DNA test shows homozygus ivs 1-6 t-->c
from my readings this is a mild form if heterozygus
in the case of homozygus can we expect a mild thal. inter.?
his hb done several times since birth it was ranging between 8.2-8.6
he is active but sometimes less than others in his age
he is pale and joundiced

thanks

I would expect that his intermedia will be less severe but that does not mean he won't need transfusions at some point. You describe him as pale and jaundiced. This is of concern and I think his physical development needs to be closely watched, as he may need transfusions to produce normal bone and organ development. Be aware that even if he doesn't transfuse regularly that there may be times that he does need some blood, due to illness or a drop in HB level. Accept this if it happens and you will be pleased at how much he improves after a transfusion.

He should be taking folic acid daily and you should consider other supplements, especially a daily multi vitamin and attempt to stabilize or even increase his hemoglobin level with wheatgrass etc. These natural methods work over long periods of time so be patient.

I would expect that his intermedia will be less severe but that does not mean he won't need transfusions at some point. You describe him as pale and jaundiced. This is of concern and I think his physical development needs to be closely watched, as he may need transfusions to produce normal bone and organ development. Be aware that even if he doesn't transfuse regularly that there may be times that he does need some blood, due to illness or a drop in HB level. Accept this if it happens and you will be pleased at how much he improves after a transfusion.

He should be taking folic acid daily and you should consider other supplements, especially a daily multi vitamin and attempt to stabilize or even increase his hemoglobin level with wheatgrass etc. These natural methods work over long periods of time so be patient.

thank you very much
i hope it will be mild as you said. i know that he may need blood transifusion, and i accept than, but i hope not or to be minimum
regarding natural methods like wheatgrass & resveratrol i will try it ASAP and i hope it will work.
today he is having mild gastroenteritis and became obviously pale and joundice, but he is active. im keeping eye on him.
thanks again

Hi Khaled

If he is maintaining at 8.6 without transfusions it is a good sign, then he has a relatively mild intermedia.


Please talk to your doctor about hydro oxy urea as well. It increases the foetal hb of the child and the hb goes up without immediate transfufion. AS it is these children have more foetal hb, hydro oxy urea boosts that.  There is no harm in talking to the doctor about this medicine.

Hi Khaled

If he is maintaining at 8.6 without transfusions it is a good sign, then he has a relatively mild intermedia.


Please talk to your doctor about hydro oxy urea as well. It increases the foetal hb of the child and the hb goes up without immediate transfufion. AS it is these children have more foetal hb, hydro oxy urea boosts that.  There is no harm in talking to the doctor about this medicine.

thank you for your comment

Hi Khaled

Did you talk to your Doctor aboiut Hydro oxy urea?

In S'pore Scientific Conference, Hydor oxy urea was discussed at length's and there are vey positive results  of this. Children easily gain hb.  Doctors from India, Lebanon and Greece all support this medicine. I think even in Malaysia it is being given. So do explore this option.

Regards

Hi Khaled

Did you talk to your Doctor aboiut Hydro oxy urea?

In S'pore Scientific Conference, Hydor oxy urea was discussed at length's and there are vey positive results  of this. Children easily gain hb.  Doctors from India, Lebanon and Greece all support this medicine. I think even in Malaysia it is being given. So do explore this option.

Regards

yesterday his doctor started him on hydroxyurea
i hope it will improve his hemoglobin
his hb was ranging from 8 to 8.5
today it is 7 "with the start of the treatment"

Please keep us informed of the progress. The full effect of hydroxyurea can take up to 2 years to be seen, so patience is necessary.

Please keep us informed of the progress. The full effect of hydroxyurea can take up to 2 years to be seen, so patience is necessary.

2 years 
but regarding his hb now which is 7
when can we expect an improvement, any improvement, even mild, not the full effect
or at least can we expect hb will not fall? 
thanks

2 years for full effect. You should see some positive changes within 3-6 months and continuing increases in Hb over the next 2 years if it is effective for your child. If you are using any other Hb inducers like wheatgrass, you can continue to use them with the hydroxyurea.

2 years for full effect. You should see some positive changes within 3-6 months and continuing increases in Hb over the next 2 years if it is effective for your child. If you are using any other Hb inducers like wheatgrass, you can continue to use them with the hydroxyurea.

thank you
i will keep you informed with any progress

an update
now after one month with hydroxyurea hb is 6.9
one month back just before hydroxyurea it was 7
i know it needs time

Hi Khaled

The difference between the two reading is negligable and you can consider them the same. In my expierence, it took my child four months to increase half a gram and hydrea could be given up to 9 months for a trail.

Did you see any change in the MCV of your son before or after using the hydrea, usually the change start in the MCV readings.

Please keep us updated and by the way you need to check the liver and kidney functions when starting the hydroxurea.

manal

Ok, this beginner needs more explanation.  What means this: homozygus IVS 1-6 T-->C ? 

Hi Peartree

This is the name of the mutation in the beta globin chain. Usually this kind of mutation causes thal intermedia, the severity of anemia also depends on the other mutation as well as othe rfactors in the body

http://www3.interscience.wiley.com/journal/112700713/abstract?CRETRY=1&SRETRY=0

Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (TC) mutation is one of the most common causes of -thalassemia. In this report, we describe the clinical phenotypes of a group of -thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (TC) -thalassemia mutation and more severe +- or °-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant -thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.

hope this helps

manal